Clinithink plays key role in achieving new world record for rapid diagnosis of rare genetic disorders

Posted by Clinithink on 13/02/2018

It’s not often in healthcare technology that we see a dramatic and immediate impact on a clinical outcome that results directly from the use of software. Often the benefits we ‘IT folks’ deliver are subtle and long term, reducing cost and improving efficiency. While these are worthwhile and create value, those of us working in the field dream of creating software that will deliver a significant and direct patient benefit. I am extremely proud to report that, through our collaboration with Rady Children’s Institute for Genomic Medicine (RCIGM), San Diego, CA and its partners we have realised that dream.

In this project we worked with RCIGM, one of the world’s leading genomics institutes, along with colleagues at Alexion, Illumina and a number of other technology innovators in the genomics space. As part of a seamless end-to-end process, the project successfully compressed the time needed to diagnose rare genetic disorders in newborns through DNA sequencing to less than a day, 19.5 hours to be precise, setting a new GUINNESS WORLD RECORDS® title.

This is an astonishing achievement. But to the children, their parents and the staff looking after them, this speed really, really matters because of the huge potential to improve the outcome made possible by faster diagnosis.

At Clinithink we are absolutely delighted that our patented CLiX natural language processing (NLP) solution played a key role in this success. CLiX was needed for two key activities in the process: quickly combing through electronic medical records to extract crucial phenotype information to then compare with over 12,000 phenotypes (plus an additional 15,000 synonyms) describing the characteristics of thousands of rare diseases. The solution can perform both of these tasks in seconds compared to the hours or days it would take a highly skilled specialist physician to do. Not only did this exciting project prove the value of our technology, the humbling reality is that this pioneering work can help save the lives of children with rare diseases.

If you are unfamiliar with this space (and I know I was) have a look at this short video to understand why this is so important and read this press release from our partners.

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Clinithink: see the wonder in the detail